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Article

[Analysis of OTOGL gene variants in a child with moderate non-syndromic hearing loss].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Aug 2021

Ren Shumin, Kong Xiangdong

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with moderate non-syndromic hearing loss. METHODS: Next generation sequencing was carried out for the child. Co-segregation of the phenotype and candidate variants was verified among his family members by Sanger sequencing. RESULTS: The child was found to harbor biallelic variants of the OTOGL gene, namely c.2773C>T (p.Arg925Ter) and c.2826C>G (p.Tyr942Ter),...

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PMID: 34365619
DOI: 10.3760/cma.j.cn511374-20200606-00414

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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